RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders

Background Variants perturbing the normal splicing of pre‐mRNA can lead to human diseases. The splice‐altering effect and eventual consequence on gene function was sometimes uncertain and hinders a definitive molecular diagnosis. Methods The impact of four rare intronic variants on splicing was anal...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Annals of human genetics 2020-11, Vol.84 (6), p.456-462
Hauptverfasser:	Zhang, Xia, Qiu, Wenjuan, Liu, Huili, Ye, Xiantao, Sun, Yu, Fan, Yanjie, Yu, Yongguo
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing Diagnosis Exon skipping Gene deletion Insertion molecular diagnosis mRNA analysis Nucleotides Pathogenicity Peripheral blood Polymerase chain reaction rare intronic variants Reverse transcription RT‐PCR splicing
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!